With advances in medical technology, children with congenital heart defects (CHDs) are living longer and leading fuller lives, translating to a rising number of adults with CHDs. But what exactly are these defects, and how do they impact adults?

Definition

Congenital Heart Defects are abnormalities in the heart’s structure or function that develop before birth. These defects can affect the heart walls, valves, arteries, and veins. While some are simple and benign, others are complex and can be life-threatening without intervention.

Overview

Historically, CHDs were primarily diagnosed and treated in children. Today, due to advances in surgical techniques and cardiology care, over 90% of children with CHDs survive to adulthood. This shift has necessitated a specialized area of cardiology: adult congenital heart disease (ACHD).

Symptoms

Many adults with CHDs may be asymptomatic or might’ve adapted to their symptoms, considering them ‘normal.’ Common symptoms include:

• Shortness of breath or fatigue during exertion
• Cyanosis (a bluish tint to the skin, lips, or fingernails)
• Swelling in the ankles, feet, or abdomen
• Heart palpitations or arrhythmias
• Dizziness or fainting spells

Causes

The exact cause of CHDs is often unknown, but they develop as the fetus’s heart is forming. Factors that increase the risk include:

• Genetics: Family history can sometimes play a role.
• Maternal Environmental Exposure: Consuming alcohol or certain medications during pregnancy.
• Maternal Health Conditions: Conditions like diabetes or phenylketonuria can increase the risk.

Risk Factors in Adults

Adults with CHDs face different challenges and risks:

• Endocarditis: An increased risk of this heart infection.
• Heart Failure: The heart may weaken over time.
• Arrhythmias: Abnormal heart rhythms.
• Stroke: Depending on the defect, there may be a higher risk.

Prevention and Detection

While CHDs can’t be entirely prevented, several measures can minimize risk:

• Genetic Counseling: For couples with a family history of CHDs.
• Maternal Health: Ensuring chronic conditions are well-managed before pregnancy.
• Avoiding Drugs and Alcohol: Especially during the first trimester.

Early detection of CHDs in fetuses has improved with:

• Fetal Echocardiography: This can diagnose some CHDs before birth.
• Newborn Screening: Pulse oximetry can identify critical CHDs in newborns.

When to See the Doctor

Adults with CHDs should have regular check-ups with a cardiologist specialized in ACHD. Symptoms like increasing shortness of breath, palpitations, or unexplained swelling should prompt an immediate visit.

Life as an Adult with a CHD

Adults with CHDs often lead full lives but may need to consider:

• Pregnancy: Women with CHDs should seek specialized care during pregnancy.
• Physical Activity: While crucial for heart health, the type and intensity should be discussed with a cardiologist.
• Mental Health: Adults with CHDs can sometimes feel isolated or anxious about their health.

Surgical Interventions in Childhood and Their Implications in Adulthood

Many adults with congenital heart defects underwent surgical procedures during childhood to correct or palliate their defects. Some of the common surgeries include:

• Fontan Procedure: Used for single ventricle defects, this procedure directs venous blood to the pulmonary arteries bypassing the heart. However, as adults, these patients might be at risk for liver disease, protein-losing enteropathy, or arrhythmias.
• Tetralogy of Fallot Repair: While this repair addresses one of the most common congenital heart conditions, adults might develop leaky pulmonary valves, which can lead to heart enlargement or arrhythmias.
• Transposition of the Great Arteries (TGA) Repair: Adults who underwent an atrial switch (like Mustard or Senning procedure) for TGA during childhood might be at risk for arrhythmias, heart failure, and baffle obstructions or leaks in adulthood.

Unique Challenges for Women with CHD

Women with congenital heart defects face unique challenges, especially if they are considering pregnancy:

• Cardio-Obstetric Teams: Women with CHD should ideally be cared for by a combined cardio-obstetric team throughout pregnancy. This team can provide specialized care tailored to the mother’s heart condition.
• Contraception: Certain forms of contraception might not be recommended for women with CHD due to the increased risk of clot formation. It’s crucial to have a discussion with a cardiologist and gynecologist.
• Risk of Genetic Transmission: Some congenital heart defects have a genetic component, raising concerns about passing the condition to offspring. Genetic counseling can provide clarity.

Importance of Continued Monitoring

Even if an adult with a congenital heart defect feels fine, continued monitoring is crucial:

• Echocardiograms: Regular echocardiograms can monitor heart function, track any deterioration, or detect new issues related to the original defect or surgery.
• Electrocardiograms (ECG): Used to detect arrhythmias which can be common in adults with repaired CHDs.

Transitioning from Pediatric to Adult Care

One of the pivotal moments for individuals with congenital heart defects is transitioning from pediatric to adult care:

• Different Needs: Adults have different needs, concerns, and potential complications compared to when they were children.
• Finding a Specialist: It’s essential to find a cardiologist specializing in adult congenital heart disease (ACHD) to ensure optimal care in adulthood.

Lifestyle and Emotional Considerations

The emotional and psychosocial implications of living with a congenital heart defect often go unspoken:

• Support Groups: Joining support groups can provide an understanding community.
• Mental Health: Anxiety, depression, and PTSD can be more common in adults with CHD due to past surgeries or the potential of future complications. Therapy or counseling can be beneficial.
• Physical Activity: While staying active is essential, it’s crucial to understand any limitations. Some adults might be at risk of endocarditis with specific activities, while others might have exercise restrictions.

Employment and Insurance

Finding employment and obtaining health insurance can sometimes be challenging for adults with CHDs:

• Disclosing Health History: It’s a personal decision whether to disclose one’s health history to employers. However, some might need accommodations.
• Insurance: Ensuring continuous health insurance coverage is crucial, given the need for ongoing cardiology care and potential interventions in the future.

Conclusion

Understanding and managing congenital heart defects as an adult is crucial. With proper care, most adults with CHDs can lead a full and active life.